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Dec 2nd, 2021 09:15AM

Shaping the future of healthcare, together with industry partners


We are entering a new phase of the 100K genomes project where we are increasingly collaborating, seeking input, and engaging with industry partners. Discovery Forum 7 welcomed our guests to spend the day getting to know more about our new team and strategy, and how they, or their organisations could help us build the future of healthcare.

Discovery Forum was an opportunity for our industry partners to learn about Genomics England’s strategy, recent initiatives, and relevant case studies. We shared case studies from academics and industry partners and our new initiatives on Cancer 2.0, Newborn Sequencing and Data Diversity. 

Session recordings

Genomics England and Discovery Forum: 2021and beyond 

Parker Moss, Rakhi Rajani, Prof Matthew Brown, Chris Wigley, Dr Augusto Rendon, Dr Rich Scott

Parker Moss, Genomics England's Chief Commercial Officer, will kick off the day with an overview of the new Genomics England, the Discovery Forum and the Genomics England service offering. Chief Digital Officer Rakhi Rajani will chat with our new Chief Scientific Officer, Matt Brown, and our leadership team will open up the session for questions and comments from the audience. 


Keynote talk: Partnering with Genomics England for enterprise-wide value creation

Pierre Farmer, Associate Director Data Science, Novartis


Hear from one our top pharmaceutical partners to learn how they have worked with Genomics England to advance drug discovery programmes.

A world first: Whole genome sequencing in the NHS Genomic Medicine Service

Prof Dame Sue Hill, Dr Rich Scott, Dr Ellen Thomas  


Together with the NHS and partners, Genomics England has been working to harness the power of genomic technology and science to improve the health of our population. The Genomic Medicine Service (GMS) is the world's first national health care programme to offer whole genome sequencing as part of routine care. The GMS will enable life-changing results for rare disease and cancer patients offered the service. Genomics England and the NHS are seeking to sequence 500,000 whole genomes by 2023/24 through the service. 


This session covers the latest project developments, as well as the key challenges and impact, both already achieved and planned for the future. 

Patients and participants as partners: an engagement strategy session 

Vivienne Parry, Jillian Hastings Ward, Richard Erwin, Imran Kausar, Helen Mendis


The Genomics England Participants Panel is an essential part of our work, acting as advisors and working together to ensure that the health data held by Genomics England is being looked after with respect and used in the best interests of participants. Partnerships between patients, participants and the wider public is an essential part of today’s research ecosystem. In this session, representatives from the Participant Panel and the Discovery Forum will discuss, with examples, how we can build and strengthen these partnerships to keep patients at the heart of what we do.

Delivering world-class research: our latest research successes


Research Track

We will present the most exciting results from our recent research efforts on Covid-19, cancer and rare diseases.

14:00 - Covid-19 paper - Dr Rich Scott, Athanasios Kousathanas, Dr Kenneth Baillie 

14:20 - Pan Cancer Clinical Genomic Landscape of the100,000 Genomes Project - Dr Nirupa Murugaesu, Dr Alona Sosinky 

14:40 - Causes of germline hypermutation - Prof Matthew Hurles


Bioinformatics Track

We will present our cutting-edge Research Environment, built in collaboration with Lifebit, and showcase its capabilities to illustrate just how this powerful platform can be for genomic research, followed by an extensive Q&A session where you can discuss your bioinformatic needs and challenges with our experts.

14:00 - Accelerating precision medicine with global data connectivity - Thorben Seeger 

14:05 - Genomics England's new Research Environment - Francis Carpenter, Dr Augusto Rendon, Pablo Prieto Barja, Dr Chiara Bacchelli

Coming soon

A glimpse into the future: Genomics England’s innovation programmes 


Hear about, and input on, the next steps for the big topics we’re tackling. We’ll discuss our commitment to increasing the diversity of our data and making genomic medicine accessible to everyone. We’ll be covering the next steps and longer ambitions for our main innovation programmes.

15:30 - Pioneering Data Diversity - Diksha Srivastava 

15:40 - Rare diseases - Dr Rich Scott

16:00 - Newborn sequencing programme - Dr Rich Scott, Dr Ellen Thomas  

16:30 - Technological innovations in cancer - Parker Moss, Danielle Folkard, Dr Greg Elgar, Prof Louise Jones

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